Robinow syndrome: report of two patients and review of literature
نویسندگان
چکیده
منابع مشابه
Robinow Syndrome: A Rare Case Report and Review of Literature
Robinow syndrome is an extremely rare genetic disorder. Short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral defects comprise its distinct features. This disorder exists in dominant and recessive patterns. Patients with the dominant pattern exhibit moderate symptoms. More physical characteristics and skeletal abnormalities characterize the recessi...
متن کاملThe First Report of Robinow Syndrome in Iran and Literature Review
Zohreh Kavehmanesh , Ali Reza Shafiee 2,* 1Department of Pediatrics, Faculty of Medicine, Baqiyatallah University of Medical Sciences, Tehran, Iran 2Student Research Committee, Baqiyatallah University of Medical Sciences, Tehran, IR Iran *Corresponding author: Ali Reza Shafiee, Student Research Committee, baqiyatallah hospital, Molasadra Street, Vanak Place, Tehran, IR Iran. Tel: +98-9192525889...
متن کاملthe first report of robinow syndrome in iran and literature review
introduction robinow syndrome (rs) is an infrequent genetic condition that is characterized by a dysmorphic face, dental anomaly, short stature, mesomelic limb shortening, hand and foot anomalies, and hypoplastic genitalia. the robinow syndrome has been reported from the arab countries and other asian countries, but has not been reported in iranian population so far. case presentation a new bor...
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McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities. We describe a girl patient with MAS having precocious puberty and multiple cafe-au-lait macules and deforming polyostotic fibrous dysplasia of bone. Clinical presentat...
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Gardner's syndrome is an autosomal dominant inherited disorder. Familial polyposis of the colon, osteomas, hypertrophy of the retinal-pigmented layer and a multitude of soft tissue tumors are characteristic features. The syndrome may be presented with colonic or extracolonic symptoms. A 75-year-old male patient presented to Al-zahra Clinic with diffuse abdominal pain. An abdominal surgery wa...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2008
ISSN: 0009-9163,1399-0004
DOI: 10.1111/j.1399-0004.1987.tb02773.x